| Primary Identifier | MGI:1096349 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 237523 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable protein tyrosine phosphatase activity. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; neuromuscular process controlling balance; and vestibular receptor cell morphogenesis. Located in apical plasma membrane and stereocilium base. Is expressed in cochlea; crista ampullaris; inner ear vestibular component; macula of utricle; and saccule. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 73 and autosomal recessive nonsyndromic deafness 84A. Orthologous to human PTPRQ (protein tyrosine phosphatase receptor type Q). PHENOTYPE: Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
